A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11015020



Internal ID1358856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53970892..54000847hg38UCSC Ensembl
chr3:54004919..54034874hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3829956
hg1929956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596174
Supporting Variants
SamplesHG01198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11015020
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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